HK型α珠蛋白生成障碍基因诊断及其家系分析  

Molecular diagnosis and pedigree analyzation of HKααthalassemia

作　　者：姚亚超[1] 李磊[2] 李泽泳[1] 李亚红[1] 李楠[1] 张珍[1] 严芳[1] 张智[1] 

机构地区：[1]广东省第二人民医院检验医学部,广州510317 [2]广州医科大学附属第三医院生殖医学中心/广东省生殖医学重点实验室,广州510150

出　　处：《检验医学与临床》2015年第12期1672-1675,共4页Laboratory Medicine and Clinic

基　　金：国家自然科学基金项目(81400639);广州医科大学博士启动基金项目(2014C39)

摘　　要：目的建立HK型α珠蛋白生成障碍基因的分子诊断方法,为临床产前诊断和遗传咨询提供指导。方法单管多重Gap-PCR的方法检测3种常见α缺失型珠蛋白生成障碍,PCR结合反向斑点杂交(RDB)技术检测αCS、αQS、αWS 3种α非缺失型珠蛋白生成障碍,巢式PCR检测HKαα型α珠蛋白生成障碍。总结HKαα型α珠蛋白生成障碍基因型及临床表型。比较HKαα型胎儿基因变异与家系关系。结果在8 000例疑似α珠蛋白生成障碍患者中,HKαα型α珠蛋白生成障碍患者27例且存在3个HKαα家系,发现1例罕见的αQS和HKαα的混合杂合子(αQSα/HKαα)。结论巢式PCR可检测HKαα型α珠蛋白生成障碍,用于育龄夫妇的基因诊断和高风险胎儿的产前诊断。Objective To establish a method for detection the genotype of HK inα-thalassemia and to provide aprecise pregnant diagnosis and an effective genetic counseling for thalassemia（thal）.Methods The single tube complex PCR was used to detect 3types of deletionalα-thal.Reverse dot blotting（RDB）/PCR to detect 3kinds of undeletionalα-thal--αCS,αQS andαWS which were common in Chinese population.The method of two-round nested PCR assay is successfully established to detect the genotype of HK inα-thal.Then we collect the clinical data of the patients with the genotype of HK inα-thal and analyse the association between the genotype and hematological phenotype.Further,we analyse the relationship between fetal genotype variation and the pedigree.Results A total of 8 000 cases from Guangdong were undergone thal genotype genetic diagnosis.Among the 8 000 cases,27cases were diagnosed as the genotype of HK inα-thal,including 3pedigrees.We report the pregnant diagnosis results for which the parents had the same type of genotype.Moreover,the hematological phenotype data were collected.Conclusion The two-round nested PCR method could effectively detect the HK genotype inα-thal.Through careful molecular tests,one case of prenatal heterozygosity ofαQSα/HKααwas identified,and the fetus is kept successfully through careful clinical counseling.

关 键 词：α珠蛋白生成障碍 产前诊断 系谱 HKαα 

分 类 号：R556.610.3[医药卫生—血液循环系统疾病]